Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET " MOMIC "

Institut National de la Santé Et de la Recherche Médicale, France

Status: Completed

Conditions: Healthy

Treatments: Other: Congenital Mirror Movement; Other: Kallmann; Other: healthy volunteers

Study type: Interventional

Funder types: Other

Identifiers

NCT01075061

2009-A00490-57 (Registry Identifier)

C09-06

Details and patient eligibility

About

Mirror movements are involuntary, symmetrical and simultaneous movements occurring on one side of the body that accompany controlateral voluntary movements. Congenital mirror movements (CMM) are characterized by childhood onset and the absence of additional manifestations. The aim of this study is to unravel the pathophysiology of the CMM that remains poorly elucidated. The combination of imaging studies and neurophysiological studies using transcranial magnetic stimulation in a homogeneous and relatively large group of patient is likely to allow us to better understand the underlying pathophysiology of the disorder. Using a linkage analysis approach we will try to identify a locus associated with CMM and related candidate genes.

Enrollment: 40 patients

Sex: All

Ages: 11 to 82 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Patients aged from 11 to 82 years
• Members of the family of interest displaying mirror movements or being obligatory asymptomatic carrier, without additional manifestation or malformation; or patient with genetically proven Kallmann syndrome and mirror movements.
• No contraindication for MRI or TMS study

Exclusion criteria

• inability to provide an informed consent
• Simultaneous participation in another clinical trial
• Treatment that modulate cortical excitability (for the TMS part of the study only)

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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40 participants in 3 patient groups

healthy volunteers

Other group

Description:

healthy volunteers

Treatment:

Other: healthy volunteers

Kallmann

Other group

Description:

Kallmann syndrome patients

Treatment:

Other: Kallmann

Congenital Mirror Movement

Other group

Description:

patients with CMM

Treatment:

Other: Congenital Mirror Movement